Ontology-guided clustering enables proteomic analysis of rare pediatric disorders
Abstract The study of rare pediatric disorders is fundamentally limited by small patient numbers, making it challenging to draw meaningful biological conclusions. To address this, we developed a framework integrating clinical ontologies with proteomic profiling, enabling the systematic analysis of r...
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| Main Authors: | Ericka C M Itang, Vincent Albrecht, Alicia-Sophie Schebesta, Marvin Thielert, Anna-Lisa Lanz, Katharina Danhauser, Jessica Jin, Tobias Prell, Sophie Strobel, Christoph Klein, Matthias Mann, Susanne Pangratz-Fuehrer, Johannes Mueller-Reif |
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| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2025-05-01
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| Series: | EMBO Molecular Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1038/s44321-025-00253-z |
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